Mutation Mechanisms - 05/08/11
Doi : 10.1016/j.det.2009.10.002
Daniele Castiglia, PhD, Giovanna Zambruno, MD ⁎ 
Laboratory of Molecular and Cell Biology, IDI-IRCCS, Via dei Monti di Creta 104, 00167 Rome, Italy
Corresponding author.Résumé |
A mutation is an event that produces heritable changes in the DNA. There are many different types of mutations, including point mutations (changes that imply loss, duplication, or alterations of small DNA segments, often involving a single or a few nucleotides) and major DNA changes (loss, duplication, or rearrangements of entire genes or of gene segments). This article reviews how different types of mutation may result in defective gene expression.
Le texte complet de cet article est disponible en PDF.Keywords : Mendelian diseases, Inheritance patterns, Mutation types, Epidermolysis bullosa
Plan
| This work was supported by grants from the Istituto Superiore di Sanità (numbers 526D/4 and E-Rare 1, acronym Kindlernet). |
© 2010
Elsevier Inc. Tous droits réservés.
Vol 28 - N° 1
P. 17-22 - janvier 2010 Retour au numéro
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